Article

VarQ: a tool for the structural analysis of Human Protein Variants

2018-03-07

Abstract excerpt

Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. Even though there are several bioinformatic algorithms and servers that predict if a SAS can be pathogenic or not they give little or non-information on the actual effect on the protein functi...

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Literature Corpus work: 45b67b90-e8fc-51f1-80af-64108b5382b3
DOI: 10.1101/277491

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